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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for SHC4 |
Gene summary |
Gene information | Gene symbol | SHC4 | Gene ID | 399694 |
Gene name | SHC adaptor protein 4 | |
Synonyms | RaLP|SHCD | |
Cytomap | 15q21.1 | |
Type of gene | protein-coding | |
Description | SHC-transforming protein 4SH2 domain protein C4SHC (Src homology 2 domain containing) family, member 4SHC-transforming protein DhShcDrai-like proteinsrc homology 2 domain-containing-transforming protein C4 | |
Modification date | 20180523 | |
UniProtAcc | Q6S5L8 | |
Context | PubMed: SHC4 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for SHC4 from UCSC genome browser |
Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for SHC4 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SHC4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_126936 | 15 | 49117975:49118323:49126965:49127219:49135605:49135785 | 49126965:49127219 | ENSG00000185634.7 | ENST00000332408.4,ENST00000537958.1,ENST00000396535.3 |
exon_skip_126938 | 15 | 49135605:49135785:49143384:49143445:49148149:49148321 | 49143384:49143445 | ENSG00000185634.7 | ENST00000332408.4,ENST00000537958.1,ENST00000396535.3 |
exon_skip_126939 | 15 | 49149888:49150012:49160014:49160066:49164285:49164339 | 49160014:49160066 | ENSG00000185634.7 | ENST00000332408.4,ENST00000537958.1,ENST00000557797.1,ENST00000558220.1,ENST00000396535.3 |
exon_skip_126940 | 15 | 49176444:49176564:49182944:49183008:49217075:49217146 | 49182944:49183008 | ENSG00000185634.7 | ENST00000332408.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SHC4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_126936 | 15 | 49117975:49118323:49126965:49127219:49135605:49135785 | 49126965:49127219 | ENSG00000185634.7 | ENST00000332408.4,ENST00000396535.3,ENST00000537958.1 |
exon_skip_126938 | 15 | 49135605:49135785:49143384:49143445:49148149:49148321 | 49143384:49143445 | ENSG00000185634.7 | ENST00000332408.4,ENST00000396535.3,ENST00000537958.1 |
exon_skip_126939 | 15 | 49149888:49150012:49160014:49160066:49164285:49164339 | 49160014:49160066 | ENSG00000185634.7 | ENST00000332408.4,ENST00000396535.3,ENST00000537958.1,ENST00000557797.1,ENST00000558220.1 |
exon_skip_126940 | 15 | 49176444:49176564:49182944:49183008:49217075:49217146 | 49182944:49183008 | ENSG00000185634.7 | ENST00000332408.4 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SHC4 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000332408 | 49126965 | 49127219 | Frame-shift |
ENST00000332408 | 49143384 | 49143445 | Frame-shift |
ENST00000332408 | 49160014 | 49160066 | Frame-shift |
ENST00000332408 | 49182944 | 49183008 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000332408 | 49126965 | 49127219 | Frame-shift |
ENST00000332408 | 49143384 | 49143445 | Frame-shift |
ENST00000332408 | 49160014 | 49160066 | Frame-shift |
ENST00000332408 | 49182944 | 49183008 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SHC4 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Lost protein functional features of individual exon skipping events in TCGA. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in GTEx. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for SHC4 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-DD-A39Y-01 | exon_skip_126936 | 49126966 | 49127219 | 49127063 | 49127063 | Frame_Shift_Del | A | - | p.L547fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_126936 | 49126966 | 49127219 | 49127097 | 49127097 | Frame_Shift_Del | C | - | p.A536fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_126938 | 49143385 | 49143445 | 49143397 | 49143397 | Frame_Shift_Del | T | - | p.S431fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_126940 | 49182945 | 49183008 | 49182952 | 49182952 | Frame_Shift_Del | T | - | p.K238fs |
UCEC | TCGA-AP-A0LM-01 | exon_skip_126936 | 49126966 | 49127219 | 49127130 | 49127130 | Nonsense_Mutation | C | A | p.E525* |
HNSC | TCGA-CV-6953-01 | exon_skip_126936 | 49126966 | 49127219 | 49127202 | 49127202 | Nonsense_Mutation | G | A | p.Q501* |
UCEC | TCGA-D1-A17Q-01 | exon_skip_126938 | 49143385 | 49143445 | 49143403 | 49143403 | Nonsense_Mutation | C | A | p.E429* |
PCPG | TCGA-SP-A6QH-01 | exon_skip_126939 | 49160015 | 49160066 | 49160067 | 49160067 | Splice_Site | C | A | . |
SKCM | TCGA-EE-A2GO-06 | exon_skip_126939 | 49160015 | 49160066 | 49160067 | 49160067 | Splice_Site | C | T | . |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
PANC1005_PANCREAS | 49126966 | 49127219 | 49127178 | 49127178 | Missense_Mutation | C | A | p.A509S |
YD38_UPPER_AERODIGESTIVE_TRACT | 49143385 | 49143445 | 49143392 | 49143392 | Missense_Mutation | C | A | p.R432S |
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49160015 | 49160066 | 49160063 | 49160063 | Missense_Mutation | T | C | p.T300A |
NCIH510_LUNG | 49126966 | 49127219 | 49127013 | 49127013 | Nonsense_Mutation | G | A | p.Q564* |
GMEL_SKIN | 49126966 | 49127219 | 49127058 | 49127058 | Nonsense_Mutation | G | A | p.R549* |
JHUEM7_ENDOMETRIUM | 49126966 | 49127219 | 49127130 | 49127130 | Nonsense_Mutation | C | A | p.E525* |
SNU1040_LARGE_INTESTINE | 49160015 | 49160066 | 49160021 | 49160021 | Nonsense_Mutation | G | A | p.Q314* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SHC4 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
exon_skip_126936 | 15 | 49117975:49118323:49126965:49127219:49135605:49135785 | 49126965:49127219 | ENST00000332408.4,ENST00000537958.1,ENST00000396535.3 | STAD | rs1426199 | chr15:49127134 | A/G | 6.41e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SHC4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SHC4 |
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RelatedDrugs for SHC4 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SHC4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |